广东地区中间型β地中海贫血的基因分析  

Molecular analysis of β-thalassemia intermedia in Guangdong Province

作　　者：张力[1] 区小冰[1] 余一平[1] 

机构地区：[1]广州市儿童医院检验科血液室,广东广州510120

出　　处：《中国当代儿科杂志》2007年第4期358-360,共3页Chinese Journal of Contemporary Pediatrics

基　　金：广东省医学科学技术研究基金资助项目(A2003658)

摘　　要：目的探讨广东地区中间型β地中海贫血(β地贫)的分子遗传学机制,为中间型β地贫的基因诊断和基因治疗提供科学依据。方法应用基因芯片,Southern印迹杂交和DNA直接测序技术,对广东地区18例中间型β地贫患儿进行α,β及γ珠蛋白基因的分子遗传学分析。结果在18例中间型β地贫患儿中,1例为β基因TATA box-28(A→G)突变纯合子,1例为β基因βE26(G→A)突变纯合子,10例为TATA box-28(A→G)与其他β基因突变的双重杂合子,2例为βE26(G→A)与其他β基因突变的双重杂合子,4例为β地贫同时复合α地贫。结论中间型β地贫的分子遗传学机制有高度的异质性,广东地区中间型β地贫的分子遗传机制与中国其他地区相比有差别。Objective To determine the molecular defects of β-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder. Methods DNA analysis of the or, β and γ globin genes was performed in 18 children with β-thalassemia intermedia from Guangdong Province using polymerase chain reaction （PCR）, microarray technique, Southern blot and direct sequencing. Results Of the 18 patients ,one was identified as the homozygote of TATA box-28 （G→A） change, one as the homozygote of βE26 （A→G） mutation, ten as compound heterozygotes of TATA box-28（A→G） mutation with other β globin mutations, two as compound heterozygotes of βE26 （G→A） mutation with other β globin mutations, and four as double heterozygotes for β globin and of globin mutations including--^SEA and -α^ 4.2 Conclusions The molecular defects of β-thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.

关 键 词：中间型β地中海贫血 珠蛋白基因 基因芯片技术 儿童 

分 类 号：R556[医药卫生—血液循环系统疾病]